OBO ID: DOID:0111554
Term Name: spondylometaphyseal dysplasia Kozlowski type Search Ontology:
Synonyms:
  • dysmorphism arthrogryposis skeletal maturation advanced
  • Jequier Kozlowski skeletal dysplasia
  • Jequier-Kozlowski syndrome
  • skeletal dysplasia Jequier-Kozlowski type
  • SMD Kozlowski type
Definition: A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. https://www.ncbi.nlm.nih.gov/pubmed/19232556
References:
Ontology: Human Disease   ( DOID:0111554 )
Relationships
is a type of:
OTHER spondylometaphyseal dysplasia Kozlowski type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPV4 Spondylometaphyseal dysplasia, Kozlowski type 184252
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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